LRRC7 | ENSG00000033122 | NCBI 57554

Details for: LRRC7

Gene ID: 57554

Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: LRRC7

Ensembl ID: ENSG00000033122

Description: leucine rich repeat containing 7

Cell Significance Landscape

Display Count:

Associated with

Activation of nmda receptors and postsynaptic events
(R-HSA-442755)
Assembly and cell surface presentation of nmda receptors
(R-HSA-9609736)
Creb1 phosphorylation through nmda receptor-mediated activation of ras signaling
(R-HSA-442742)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Long-term potentiation
(R-HSA-9620244)
Mapk1/mapk3 signaling
(R-HSA-5684996)
Mapk family signaling cascades
(R-HSA-5683057)
Negative regulation of nmda receptor-mediated neuronal transmission
(R-HSA-9617324)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Neutrophil degranulation
(R-HSA-6798695)
Post nmda receptor activation events
(R-HSA-438064)
Raf/map kinase cascade
(R-HSA-5673001)
Ras activation upon ca2+ influx through nmda receptor
(R-HSA-442982)
Signal transduction
(R-HSA-162582)
Transmission across chemical synapses
(R-HSA-112315)
Unblocking of nmda receptors, glutamate binding and activation
(R-HSA-438066)
Adherens junction
(GO:0005912)
Axon initial segment
(GO:0043194)
Basolateral plasma membrane
(GO:0016323)
Cell-cell adhesion
(GO:0098609)
Cytosol
(GO:0005829)
Establishment or maintenance of epithelial cell apical/basal polarity
(GO:0045197)
Extracellular region
(GO:0005576)
Neurotransmitter receptor transport, endosome to postsynaptic membrane
(GO:0098887)
Neurotransmitter receptor transport postsynaptic membrane to endosome
(GO:0098968)
Positive regulation of neuron projection development
(GO:0010976)
Postsynaptic density
(GO:0014069)
Postsynaptic membrane
(GO:0045211)
Protein binding
(GO:0005515)
Protein kinase binding
(GO:0019901)
Receptor clustering
(GO:0043113)
Specific granule lumen
(GO:0035580)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

VIP GABAergic cortical interneuron CL4023016

CSI 54.55

rCSI 65.16%

PRS 99.72
sst GABAergic cortical interneuron CL4023017

CSI 49.49

rCSI 63.8%

PRS 99.82
pvalb GABAergic cortical interneuron CL4023018

CSI 48.55

rCSI 60.39%

PRS 99.67
sncg GABAergic cortical interneuron CL4023015

CSI 38.03

rCSI 61.16%

PRS 99.64
lamp5 GABAergic cortical interneuron CL4023011

CSI 37.28

rCSI 62.58%

PRS 99.71
caudal ganglionic eminence derived cortical interneuron CL4023064

CSI 34.92

rCSI 61.67%

PRS 99.67
retinal bipolar neuron CL0000748

CSI 34.03

rCSI 63.73%

PRS 99.64
inhibitory interneuron CL0000498

CSI 32.95

rCSI 76.07%

PRS 99.88
oligodendrocyte precursor cell CL0002453

CSI 30.74

rCSI 67.65%

PRS 99.76
Bergmann glial cell CL0000644

CSI 30.16

rCSI 41.27%

PRS 99.77
L2/3 intratelencephalic projecting glutamatergic neuron CL4030059

CSI 28.55

rCSI 61.93%

PRS 99.86
differentiation-committed oligodendrocyte precursor CL4023059

CSI 27.94

rCSI 50.77%

PRS 99.91
L4 intratelencephalic projecting glutamatergic neuron CL4030063

CSI 25.12

rCSI 60.07%

PRS 99.84
vascular leptomeningeal cell CL4023051

CSI 24.6

rCSI 43.13%

PRS 99.95
L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040

CSI 24.47

rCSI 59.47%

PRS 99.41
neuron CL0000540

CSI 24.35

rCSI 64.85%

PRS 99.7
cerebral cortex endothelial cell CL1001602

CSI 24.17

rCSI 41.81%

PRS 99.85
neuroblast (sensu Nematoda and Protostomia) CL0000338

CSI 23.71

rCSI 27.38%

PRS 99.72
interneuron CL0000099

CSI 22.92

rCSI 46.01%

PRS 99.92
rod bipolar cell CL0000751

CSI 22.38

rCSI 40.22%

PRS 99.79
ependymal cell CL0000065

CSI 21.59

rCSI 43.8%

PRS 98.86
retinal ganglion cell CL0000740

CSI 20.97

rCSI 46.33%

PRS 99.69
neural cell CL0002319

CSI 20.6

rCSI 77.75%

PRS 99.68
neuroblast (sensu Vertebrata) CL0000031

CSI 20.53

rCSI 26.35%

PRS 99.87
glutamatergic neuron CL0000679

CSI 20.38

rCSI 41.89%

PRS 98.91
L6b glutamatergic cortical neuron CL4023038

CSI 20.11

rCSI 62.85%

PRS 99.67
epithelial cell of proximal tubule CL0002306

CSI 19.58

rCSI 47.82%

PRS 99.32
glycinergic amacrine cell CL4030028

CSI 19.11

rCSI 49.79%

PRS 99.86
progenitor cell CL0011026

CSI 18.2

rCSI 38.7%

PRS 99.69
Schwann cell CL0002573

CSI 17.64

rCSI 50.13%

PRS 99.88
L5/6 near-projecting glutamatergic neuron CL4030067

CSI 17.48

rCSI 57.44%

PRS 99.83
chandelier pvalb GABAergic cortical interneuron CL4023036

CSI 17.22

rCSI 53.87%

PRS 99.74
glioblast CL0000030

CSI 17.17

rCSI 27.39%

PRS 99.79
cerebellar granule cell CL0001031

CSI 16.37

rCSI 24.06%

PRS 99.89
L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041

CSI 16.19

rCSI 58.26%

PRS 99.53
near-projecting glutamatergic cortical neuron CL4023012

CSI 16.16

rCSI 61.07%

PRS 99.51
cerebral cortex neuron CL0010012

CSI 15.66

rCSI 63.8%

PRS 99.93
myofibroblast cell CL0000186

CSI 15.51

rCSI 21.48%

PRS 99.95
GABAergic neuron CL0000617

CSI 14.84

rCSI 49.73%

PRS 98.81
amacrine cell CL0000561

CSI 14.72

rCSI 42.67%

PRS 99.84
hepatic stellate cell CL0000632

CSI 12.83

rCSI 48.06%

PRS 99.87
cerebral cortex GABAergic interneuron CL0010011

CSI 12.71

rCSI 37.51%

PRS 99.98
neural crest cell CL0011012

CSI 12.13

rCSI 9.59%

PRS 99.92
serotonergic neuron CL0000850

CSI 12.01

rCSI 53.66%

PRS 99.48
astrocyte of the cerebral cortex CL0002605

CSI 11.81

rCSI 26.48%

PRS 99.64
regular atrial cardiac myocyte CL0002129

CSI 11.56

rCSI 37.2%

PRS 99.75
cardiac neuron CL0010022

CSI 11.46

rCSI 36.67%

PRS 99.93
OFFx cell CL4033036

CSI 11.01

rCSI 51.78%

PRS 99.8
corticothalamic-projecting glutamatergic cortical neuron CL4023013

CSI 10.21

rCSI 60.11%

PRS 99.63
adipocyte CL0000136

CSI 9.95

rCSI 12.78%

PRS 99.6
mature astrocyte CL0002627

CSI 9.79

rCSI 41.62%

PRS 99.95
flat midget bipolar cell CL4033033

CSI 9.12

rCSI 65.2%

PRS 99.94
dopaminergic neuron CL0000700

CSI 9.07

rCSI 51.24%

PRS 99.59
invaginating midget bipolar cell CL4033034

CSI 8.97

rCSI 52.96%

PRS 99.73
GABAergic amacrine cell CL4030027

CSI 8.54

rCSI 29.25%

PRS 99.74
diffuse bipolar 6 cell CL4033032

CSI 8.34

rCSI 43.84%

PRS 99.87
cardiac muscle cell CL0000746

CSI 8.33

rCSI 11.96%

PRS 99.47
diffuse bipolar 3b cell CL4033030

CSI 8.2

rCSI 54.41%

PRS 99.74
diffuse bipolar 2 cell CL4033028

CSI 7.98

rCSI 61.8%

PRS 99.94
glial cell CL0000125

CSI 7.9

rCSI 30.07%

PRS 99.53
ON-bipolar cell CL0000749

CSI 7.69

rCSI 11.43%

PRS 99.82
medium spiny neuron CL1001474

CSI 7.63

rCSI 65.75%

PRS 99.87
diffuse bipolar 3a cell CL4033029

CSI 7.48

rCSI 50.9%

PRS 99.77
central nervous system neuron CL2000029

CSI 7.37

rCSI 54.14%

PRS 99.92
regular ventricular cardiac myocyte CL0002131

CSI 4.87

rCSI 30.41%

PRS 99.58
mesodermal cell CL0000222

CSI 4.57

rCSI 5.49%

PRS 99.95
diffuse bipolar 1 cell CL4033027

CSI 4.37

rCSI 32.86%

PRS 99.71
diffuse bipolar 4 cell CL4033031

CSI 3.81

rCSI 43.65%

PRS 99.48
midbrain dopaminergic neuron CL2000097

CSI 3.53

rCSI 22.63%

PRS 99.88
cerebral cortex pyramidal neuron CL4023111

CSI 2.9

rCSI 17.87%

PRS 99.93
neuroplacodal cell CL0000032

CSI 2.88

rCSI 26.63%

PRS 99.77
ON parasol ganglion cell CL4033052

CSI 2.87

rCSI 40.72%

PRS 99.89
direct pathway medium spiny neuron CL4023026

CSI 2.46

rCSI 58.99%

PRS 99.23
indirect pathway medium spiny neuron CL4023029

CSI 2.44

rCSI 58.79%

PRS 99.17
OFF midget ganglion cell CL4033047

CSI 2.19

rCSI 44.69%

PRS 99.84
ON midget ganglion cell CL4033046

CSI 2.19

rCSI 44.62%

PRS 99.8
neural progenitor cell CL0011020

CSI 2.15

rCSI 9.45%

PRS 97.99
starburst amacrine cell CL0004232

CSI 1.86

rCSI 15.62%

PRS 99.85
enteroglial cell CL4040002

CSI 1.55

rCSI 8.14%

PRS 99.96
medial ganglionic eminence derived interneuron CL4023063

CSI 1.55

rCSI 15.45%

PRS 98.85

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Context Genes (max 20):

Interaction Source:

Pathway Categories (for ONTOLOGY source):

Baseline Cell Type:

Baseline Cell Context(s): Comma-separated if multiple.

Target Cell Type:

Target Cell Context(s): Comma-separated if multiple.

Legend:

Query Gene
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
Node Size: Proportional to Target Cell CSI magnitude
STRING PPI Edge
Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

Description
Proteins

## Summary [LRRC7](/details-gene/57554) (Leucine Rich Repeat Containing 7) is a protein-coding gene located on human chromosome 1p31.1 ([Link](https://doi.org/10.1038/nature04727)). Also known as Densin-180, it functions primarily as a scaffolding protein at the postsynaptic density (PSD) of excitatory synapses. Functional annotations strongly link [LRRC7](/details-gene/57554) to the regulation of synaptic plasticity, particularly through its involvement in NMDA receptor signaling pathways and long-term potentiation. **Overall**, expression data reveals that [LRRC7](/details-gene/57554) is a highly significant gene within the central nervous system, showing prominent expression in various subtypes of cortical GABAergic interneurons, as well as in other neuronal and glial cell populations. This specific expression pattern, combined with its role in synaptic transmission, suggests it is a critical component for maintaining the functional integrity of neural circuits. ## Cellular Roles and Expression Landscape The expression profile of [LRRC7](/details-gene/57554) demonstrates its profound importance within the nervous system. **Overall**, the gene shows its highest significance in several subtypes of inhibitory interneurons, including [VIP GABAergic cortical interneuron](/details-cell/CL4023016) (CSI: 54.55), [sst GABAergic cortical interneuron](/details-cell/CL4023017) (CSI: 49.49), and [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 48.55). This enrichment across multiple functionally distinct interneuron classes suggests a fundamental role in regulating inhibitory circuits in the cortex. Beyond its role in interneurons, [LRRC7](/details-gene/57554) is also significantly expressed in glutamatergic neurons, such as [L2/3 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4030059) (CSI: 28.55), and in glial cell lineages, including [oligodendrocyte precursor cell](/details-cell/CL0002453) (CSI: 30.74) and [Bergmann glial cell](/details-cell/CL0000644) (CSI: 30.16). Its presence in oligodendrocyte precursors may indicate a function in myelination or axon-glia communication, extending its influence beyond direct synaptic transmission. The broad but specific expression pattern within neuronal and glial populations underscores its integral role in the development and function of the central nervous system. ## Pathways and Molecular Function The molecular functions of [LRRC7](/details-gene/57554) are tightly associated with the structure and signaling capacity of the synapse. Gene Ontology annotations place the protein at the [postsynaptic density](/details-ontology/GO:0014069) and [adherens junction](/details-ontology/GO:0005912), where it is involved in [protein binding](/details-ontology/GO:0005515) and [receptor clustering](/details-ontology/GO:0043113). These roles are consistent with its function as a scaffolding protein that organizes signaling complexes at the synapse. Reactome pathway analysis provides a more detailed picture, firmly implicating [LRRC7](/details-gene/57554) in synaptic transmission and plasticity. It is a component of pathways such as [Transmission across chemical synapses](https://reactome.org/content/detail/R-HSA-112315), [Neurotransmitter receptors and postsynaptic signal transmission](https://reactome.org/content/detail/R-HSA-112314), and [Long-term potentiation](https://reactome.org/content/detail/R-HSA-9620244). Specifically, it is involved in the [Activation of nmda receptors and postsynaptic events](https://reactome.org/content/detail/R-HSA-442755) and subsequent downstream cascades like the [Raf/map kinase cascade](https://reactome.org/content/detail/R-HSA-5673001). This molecular evidence strongly supports a model where [LRRC7](/details-gene/57554) acts as a key organizer of the NMDA receptor complex, thereby modulating synaptic strength and neuronal signaling. Intriguingly, it is also annotated to the [Innate immune system](https://reactome.org/content/detail/R-HSA-168249) and [Neutrophil degranulation](https://reactome.org/content/detail/R-HSA-6798695) pathways, suggesting a potential, though less characterized, role in neuro-immune processes. ## Research Directions The specific enrichment of [LRRC7](/details-gene/57554) in distinct neuronal and glial subtypes, coupled with its central role in synaptic plasticity, presents several avenues for future research. ### Proposed Hypotheses: 1. **Hypothesis 1:** Given its high significance in cortical interneurons and its role in NMDA receptor signaling, loss-of-function mutations in [LRRC7](/details-gene/57554) may disrupt the excitatory/inhibitory balance in cortical circuits, contributing to the pathophysiology of neurological disorders such as epilepsy or schizophrenia. 2. **Hypothesis 2:** The significant expression of [LRRC7](/details-gene/57554) in [oligodendrocyte precursor cell](/details-cell/CL0002453)s suggests a role in glial development. It is hypothesized that [LRRC7](/details-gene/57554) participates in the signaling pathways that guide oligodendrocyte differentiation and myelination, and its dysregulation could be implicated in demyelinating diseases. ### Key Experiment: To test the first hypothesis regarding its role in cortical inhibitory circuits, a cell-type-specific knockout approach would be highly informative. One could generate a conditional knockout mouse model by crossing mice carrying a floxed *Lrrrc7* allele with a Pvalb-Cre driver line to specifically delete the gene in [pvalb GABAergic cortical interneuron](/details-cell/CL4023018)s. Subsequent *in vivo* two-photon imaging and *ex vivo* patch-clamp electrophysiology could be used to assess changes in synaptic plasticity, network oscillations, and overall circuit function. Behavioral assays designed to probe cognitive functions associated with cortical circuit integrity, such as prepulse inhibition or novel object recognition, would reveal the functional consequences of this cell-specific deletion. ### Therapeutic Potential: As a core scaffolding protein essential for proper synaptic function, [LRRC7](/details-gene/57554) presents a challenging therapeutic target. Global inhibition would likely lead to severe neurological side effects due to its widespread importance in the CNS. However, if specific gain- or loss-of-function variants are identified as causal for neuropsychiatric or neurodegenerative diseases, [LRRC7](/details-gene/57554) could become a target for highly specific molecular modulators. Therapeutic strategies would likely focus on restoring its normal function, for example, by developing small molecules that stabilize its interaction with key binding partners at the synapse, rather than broad inhibition or activation.

Disclaimer: This in-silico analysis is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

A0A075B6E9_HUMAN

Genular Protein ID: 3679232164

Symbol: A0A075B6E9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A075B6E9

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

Length: 1495
Mass: 167991
Checksum: 06F175A6CB833D52
Sequence:

MQCLEMTTKR KIIGRLVPCR CFRGEEEIIS VLDYSHCSLQ QVPKEVFNFE RTLEELYLDA 
NQIEELPKQL FNCQALRKLS IPDNDLSNLP TTIASLVNLK ELDISKNGVQ EFPENIKCCK 
CLTIIEASVN PISKLPDGFT QLLNLTQLYL NDAFLEFLPA NFGRLVKLRI LELRENHLKT 
LPKSMHKLAQ LERLDLGNNE FGELPEVLDQ IQNLRELWMD NNALQVLPGS IGKLKMLVYL 
DMSKNRIETV DMDISGCEAL EDLLLSSNML QQLPDSIGLL KKLTTLKVDD NQLTMLPNTI 
GNLSLLEEFD CSCNELESLP STIGYLHSLR TLAVDENFLP ELPREIGSCK NVTVMSLRSN 
KLEFLPEEIG QMQKLRVLNL SDNRLKNLPF SFTKLKELAA LWLSDNQSKA LIPLQTEAHP 
ETKQRVLTNY MFPQQPRGDE DFQSDSDSFN PTLWEEQRQQ RMTVAFEFED KKEDDENAGK 
VKDLSCQAPW ERGQRGITLQ PARLSGDCCT PWARCDQQIQ DMPVPQNDPQ LAWGCISGLQ 
QERSMCTPLP VAAQSTTLPS LSGRQVEINL KRYPTPYPED LKNMVKSVQN LVGKPSHGVR 
VENSNPTANT EQTVKEKYEH KWPVAPKEIT VEDSFVHPAN EMRIGELHPS LAETPLYPPK 
LVLLGKDKKE STDESEVDKT HCLNNSVSSG TYSDYSPSQA SSGSSNTRVK VGSLQTTAKD 
AVHNSLWGNR IAPSFPQPLD SKPLLSQREA VPPGNIPQRP DRLPMSDTFT DNWTDGSHYD 
NTGFVAEETT AENANSNPLL SSKSRSTSSH GRRPLIRQDR IVGVPLELEQ STHRHTPETE 
VPPSNPWQNW TRTPSPFEDR TAFPSKLETT PTTSPLPERK EHIKESTEIP SPFSPGVPWE 
YHDSNPNRSL SNVFSQIHCR PESSKGVISI SKSTERLSPL MKDIKSNKFK KSQSIDEIDI 
GTYKVYNIPL ENYASGSDHL GSHERPDKML GPEHGMSSMS RSQSVPMLDD EMLTYGSSKG 
PQQQKASMTK KVYQFDQSFN PQGSVEVKAE KRIPPPFQHN PEYVQQASKN IAKDLISPRA 
YRGYPPMEQM FSFSQPSVNE DAVVNAQFAS QGARAGFLRR ADSLVSATEM AMFRRVNEPH 
ELPPTDRYGR PPYRGGLDRQ SSVTVTESQF LKRNGRYEDE HPSYQEVKAQ AGSFPVKNLT 
QRRPLSARSY STESYGASQT RPVSARPTMA ALLEKIPSDY NLGNYGDKPS DNSDLKTRPT 
PVKGEESCGK MPADWRQQLL RHIEARRLDR TPSQQSNILD NGQEDVSPSG QWNPYPLGRR 
DVPPDTITKK AGSHIQTLMG SQSLQHRSRE QQPYEGNINK VTIQQFQSPL PIQIPSSQAT 
RGPQPGRCLI QTKGQRSMDG YPEQFCVRIE KNPGLGFSIS GGISGQGNPF KPSDKGIFVT 
RVQPDGPASN LLQPGDKILQ ANGHSFVHME HEKAVLLLKS FQNTVDLVIQ RELTV